RNF13

Chr 3q25.1

ring finger protein 13

Aliases:: RZF
MANE:: ENST00000392894.8

OMIM: 609247 ↗NCBI: 11342 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RNF13 · O43567

v62025-08-01

Predicted Aligned Error matrix for RNF13 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.4/ 100

Confident

381 residues

Confidence breakdown

Very high(≥ 90)34%
Confident(70–90)33%
Low(50–70)9%
Very low(< 50)24%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.64
attention deficit-hyperactivity disorder
0.26
substance abuse
0.26
myocardial infarction
0.25
vertebral column disorder
0.24
bone fracture
0.19
nephritis
0.18
corneal ulcer
0.18
neoplasm
0.08
hepatocellular carcinoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

E3 ubiquitin-protein ligase RNF13

E3 ubiquitin-protein ligase that regulates cell proliferation (PubMed:18794910, PubMed:23378536, PubMed:30595371). Involved in apoptosis regulation (PubMed:23378536, PubMed:30595371). Mediates ER stress-induced activation of JNK signaling pathway and apoptosis by promoting ERN1 activation and splicing of XBP1 mRNA (PubMed:23378536, PubMed:30595371). Also involved in protein trafficking and localization (PubMed:24387786)